Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.146018085T>ACA342131103HJVc.1273A>T (p.Ile425Phe)
c.595A>T (p.Ile199Phe)
c.934A>T (p.Ile312Phe)
1g.146018085T>CCA342131106HJVc.1273A>G (p.Ile425Val)
c.595A>G (p.Ile199Val)
c.934A>G (p.Ile312Val)
 dbSNP gnomAD v2 gnomAD v4
1g.146018085T>GCA342131109HJVc.1273A>C (p.Ile425Leu)
c.595A>C (p.Ile199Leu)
c.934A>C (p.Ile312Leu)
1g.146018085T=CA1198820838HJVc.1273A= (p.Ile425=)
c.595A= (p.Ile199=)
c.934A= (p.Ile312=)
1g.146018086G>ACA420249952HJVc.1272C>T (p.Cys424=)
c.594C>T (p.Cys198=)
c.933C>T (p.Cys311=)
1g.146018086G>CCA342131121HJVc.1272C>G (p.Cys424Trp)
c.594C>G (p.Cys198Trp)
c.933C>G (p.Cys311Trp)
1g.146018086G>TCA342131127HJVc.1272C>A (p.Cys424Ter)
c.594C>A (p.Cys198Ter)
c.933C>A (p.Cys311Ter)
1g.146018087C>ACA342131138HJVc.1271G>T (p.Cys424Phe)
c.593G>T (p.Cys198Phe)
c.932G>T (p.Cys311Phe)
1g.146018087C>GCA342131145HJVc.1271G>C (p.Cys424Ser)
c.593G>C (p.Cys198Ser)
c.932G>C (p.Cys311Ser)
 gnomAD v4
1g.146018087C>TCA342131143HJVc.1271G>A (p.Cys424Tyr)
c.593G>A (p.Cys198Tyr)
c.932G>A (p.Cys311Tyr)
1g.146018088A>CCA342131148HJVc.1270T>G (p.Cys424Gly)
c.592T>G (p.Cys198Gly)
c.931T>G (p.Cys311Gly)
1g.146018088A>GCA342131150HJVc.1270T>C (p.Cys424Arg)
c.592T>C (p.Cys198Arg)
c.931T>C (p.Cys311Arg)
1g.146018088A>TCA342131151HJVc.1270T>A (p.Cys424Ser)
c.592T>A (p.Cys198Ser)
c.931T>A (p.Cys311Ser)
1g.146018089A>CCA420249960HJVc.1269T>G (p.Leu423=)
c.591T>G (p.Leu197=)
c.930T>G (p.Leu310=)
1g.146018089A>GCA420249959HJVc.1269T>C (p.Leu423=)
c.591T>C (p.Leu197=)
c.930T>C (p.Leu310=)
1g.146018089A>TCA420249962HJVc.1269T>A (p.Leu423=)
c.591T>A (p.Leu197=)
c.930T>A (p.Leu310=)
1g.146018090A>CCA342131155HJVc.1268T>G (p.Leu423Arg)
c.590T>G (p.Leu197Arg)
c.929T>G (p.Leu310Arg)
1g.146018090A>GCA342131160HJVc.1268T>C (p.Leu423Pro)
c.590T>C (p.Leu197Pro)
c.929T>C (p.Leu310Pro)
1g.146018090A>TCA342131165HJVc.1268T>A (p.Leu423His)
c.590T>A (p.Leu197His)
c.929T>A (p.Leu310His)
1g.146018091G>ACA342131172HJVc.1267C>T (p.Leu423Phe)
c.589C>T (p.Leu197Phe)
c.928C>T (p.Leu310Phe)
 dbSNP gnomAD v2 gnomAD v4
1g.146018091G>CCA342131176HJVc.1267C>G (p.Leu423Val)
c.589C>G (p.Leu197Val)
c.928C>G (p.Leu310Val)
1g.146018091G=CA1198820839HJVc.1267C= (p.Leu423=)
c.589C= (p.Leu197=)
c.928C= (p.Leu310=)
1g.146018091G>TCA342131188HJVc.1267C>A (p.Leu423Ile)
c.589C>A (p.Leu197Ile)
c.928C>A (p.Leu310Ile)
 dbSNP
1g.146018092C>ACA342131192HJVc.1266G>T (p.Trp422Cys)
c.588G>T (p.Trp196Cys)
c.927G>T (p.Trp309Cys)
1g.146018092C=CA1198820840HJVc.1266G= (p.Trp422=)
c.588G= (p.Trp196=)
c.927G= (p.Trp309=)
1g.146018092C>GCA1053993HJVc.1266G>C (p.Trp422Cys)
c.588G>C (p.Trp196Cys)
c.927G>C (p.Trp309Cys)
 dbSNP ExAC gnomAD v4
1g.146018092C>TCA342131197HJVc.1266G>A (p.Trp422Ter)
c.588G>A (p.Trp196Ter)
c.927G>A (p.Trp309Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.146018093C>ACA342131221HJVc.1265G>T (p.Trp422Leu)
c.587G>T (p.Trp196Leu)
c.926G>T (p.Trp309Leu)
1g.146018093C>GCA342131206HJVc.1265G>C (p.Trp422Ser)
c.587G>C (p.Trp196Ser)
c.926G>C (p.Trp309Ser)
1g.146018093C>TCA342131209HJVc.1265G>A (p.Trp422Ter)
c.587G>A (p.Trp196Ter)
c.926G>A (p.Trp309Ter)
1g.146018094A=CA1198820841HJVc.1264T= (p.Trp422=)
c.586T= (p.Trp196=)
c.925T= (p.Trp309=)
1g.146018094A>CCA342131224HJVc.1264T>G (p.Trp422Gly)
c.586T>G (p.Trp196Gly)
c.925T>G (p.Trp309Gly)
1g.146018094A>GCA339451HJVc.1264T>C (p.Trp422Arg)
c.586T>C (p.Trp196Arg)
c.925T>C (p.Trp309Arg)
 ClinVar dbSNP gnomAD v4
1g.146018094A>TCA342131240HJVc.1264T>A (p.Trp422Arg)
c.586T>A (p.Trp196Arg)
c.925T>A (p.Trp309Arg)
1g.146018095C>ACA420249974HJVc.1263G>T (p.Leu421=)
c.585G>T (p.Leu195=)
c.924G>T (p.Leu308=)
1g.146018095C>GCA420249977HJVc.1263G>C (p.Leu421=)
c.585G>C (p.Leu195=)
c.924G>C (p.Leu308=)
1g.146018095C>TCA420249976HJVc.1263G>A (p.Leu421=)
c.585G>A (p.Leu195=)
c.924G>A (p.Leu308=)
1g.146018096A>CCA342131247HJVc.1262T>G (p.Leu421Arg)
c.584T>G (p.Leu195Arg)
c.923T>G (p.Leu308Arg)
 gnomAD v4
1g.146018096A>GCA342131248HJVc.1262T>C (p.Leu421Pro)
c.584T>C (p.Leu195Pro)
c.923T>C (p.Leu308Pro)
1g.146018096A>TCA342131250HJVc.1262T>A (p.Leu421Gln)
c.584T>A (p.Leu195Gln)
c.923T>A (p.Leu308Gln)
1g.146018097G>ACA420249981HJVc.1261C>T (p.Leu421=)
c.583C>T (p.Leu195=)
c.922C>T (p.Leu308=)
1g.146018097G>CCA342131251HJVc.1261C>G (p.Leu421Val)
c.583C>G (p.Leu195Val)
c.922C>G (p.Leu308Val)
1g.146018097G>TCA342131255HJVc.1261C>A (p.Leu421Met)
c.583C>A (p.Leu195Met)
c.922C>A (p.Leu308Met)
1g.146018098A>CCA420249985HJVc.1260T>G (p.Val420=)
c.582T>G (p.Val194=)
c.921T>G (p.Val307=)
1g.146018098A>GCA420249984HJVc.1260T>C (p.Val420=)
c.582T>C (p.Val194=)
c.921T>C (p.Val307=)
 ClinVar gnomAD v4
1g.146018098A>TCA420249983HJVc.1260T>A (p.Val420=)
c.582T>A (p.Val194=)
c.921T>A (p.Val307=)
1g.146018099A>CCA342131259HJVc.1259T>G (p.Val420Gly)
c.581T>G (p.Val194Gly)
c.920T>G (p.Val307Gly)
1g.146018099A>GCA342131261HJVc.1259T>C (p.Val420Ala)
c.581T>C (p.Val194Ala)
c.920T>C (p.Val307Ala)
1g.146018099A>TCA342131263HJVc.1259T>A (p.Val420Asp)
c.581T>A (p.Val194Asp)
c.920T>A (p.Val307Asp)
1g.146018100C>ACA342131274HJVc.1258G>T (p.Val420Phe)
c.580G>T (p.Val194Phe)
c.919G>T (p.Val307Phe)
 gnomAD v4
1g.146018100C>GCA342131270HJVc.1258G>C (p.Val420Leu)
c.580G>C (p.Val194Leu)
c.919G>C (p.Val307Leu)
1g.146018100C>TCA342131267HJVc.1258G>A (p.Val420Ile)
c.580G>A (p.Val194Ile)
c.919G>A (p.Val307Ile)
1g.146018100_146018102delinsCAACA1198820842HJVc.1256_1258delinsTTG (p.Phe419=)
c.578_580delinsTTG (p.Phe193=)
c.917_919delinsTTG (p.Phe306=)
1g.146018101A=CA1198820843HJVc.1257T= (p.Phe419=)
c.579T= (p.Phe193=)
c.918T= (p.Phe306=)
1g.146018101A>CCA1053992HJVc.1257T>G (p.Phe419Leu)
c.579T>G (p.Phe193Leu)
c.918T>G (p.Phe306Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.146018101A>GCA29822713HJVc.1257T>C (p.Phe419=)
c.579T>C (p.Phe193=)
c.918T>C (p.Phe306=)
 gnomAD v4
1g.146018101A>TCA29822736HJVc.1257T>A (p.Phe419Leu)
c.579T>A (p.Phe193Leu)
c.918T>A (p.Phe306Leu)
1g.146018102_146018103delCA526254186HJVc.1256_1257del (p.Phe419CysfsTer20)
c.578_579del (p.Phe193CysfsTer20)
c.917_918del (p.Phe306CysfsTer20)
 dbSNP gnomAD v2
1g.146018102A>CCA342131320HJVc.1256T>G (p.Phe419Cys)
c.578T>G (p.Phe193Cys)
c.917T>G (p.Phe306Cys)
1g.146018102A>GCA342131324HJVc.1256T>C (p.Phe419Ser)
c.578T>C (p.Phe193Ser)
c.917T>C (p.Phe306Ser)
1g.146018102A>TCA342131332HJVc.1256T>A (p.Phe419Tyr)
c.578T>A (p.Phe193Tyr)
c.917T>A (p.Phe306Tyr)
1g.146018103A>CCA342131361HJVc.1255T>G (p.Phe419Val)
c.577T>G (p.Phe193Val)
c.916T>G (p.Phe306Val)
1g.146018103A>GCA342131353HJVc.1255T>C (p.Phe419Leu)
c.577T>C (p.Phe193Leu)
c.916T>C (p.Phe306Leu)
1g.146018103A>TCA342131346HJVc.1255T>A (p.Phe419Ile)
c.577T>A (p.Phe193Ile)
c.916T>A (p.Phe306Ile)
1g.146018104G>ACA420249988HJVc.1254C>T (p.Leu418=)
c.576C>T (p.Leu192=)
c.915C>T (p.Leu305=)
1g.146018104G>CCA10607999HJVc.1254C>G (p.Leu418=)
c.576C>G (p.Leu192=)
c.915C>G (p.Leu305=)
 ClinVar dbSNP gnomAD v4
1g.146018104G=CA1198820844HJVc.1254C= (p.Leu418=)
c.576C= (p.Leu192=)
c.915C= (p.Leu305=)
1g.146018104G>TCA420249987HJVc.1254C>A (p.Leu418=)
c.576C>A (p.Leu192=)
c.915C>A (p.Leu305=)
1g.146018105A>CCA342131367HJVc.1253T>G (p.Leu418Arg)
c.575T>G (p.Leu192Arg)
c.914T>G (p.Leu305Arg)
1g.146018105A>GCA342131368HJVc.1253T>C (p.Leu418Pro)
c.575T>C (p.Leu192Pro)
c.914T>C (p.Leu305Pro)
1g.146018105A>TCA342131369HJVc.1253T>A (p.Leu418His)
c.575T>A (p.Leu192His)
c.914T>A (p.Leu305His)
1g.146018106G>ACA342131372HJVc.1252C>T (p.Leu418Phe)
c.574C>T (p.Leu192Phe)
c.913C>T (p.Leu305Phe)
 dbSNP gnomAD v3 gnomAD v4
1g.146018106G>CCA29822764HJVc.1252C>G (p.Leu418Val)
c.574C>G (p.Leu192Val)
c.913C>G (p.Leu305Val)
 gnomAD v4
1g.146018106G=CA1143440673HJVc.1252C= (p.Leu418=)
c.574C= (p.Leu192=)
c.913C= (p.Leu305=)
1g.146018106G>TCA29822773HJVc.1252C>A (p.Leu418Ile)
c.574C>A (p.Leu192Ile)
c.913C>A (p.Leu305Ile)
 gnomAD v4
1g.146018107C>ACA420249989HJVc.1251G>T (p.Gly417=)
c.573G>T (p.Gly191=)
c.912G>T (p.Gly304=)
1g.146018107C>GCA420249990HJVc.1251G>C (p.Gly417=)
c.573G>C (p.Gly191=)
c.912G>C (p.Gly304=)
1g.146018107C>TCA420249991HJVc.1251G>A (p.Gly417=)
c.573G>A (p.Gly191=)
c.912G>A (p.Gly304=)
1g.146018108C>ACA342131375HJVc.1250G>T (p.Gly417Val)
c.572G>T (p.Gly191Val)
c.911G>T (p.Gly304Val)
1g.146018108C>GCA342131378HJVc.1250G>C (p.Gly417Ala)
c.572G>C (p.Gly191Ala)
c.911G>C (p.Gly304Ala)
1g.146018108C>TCA342131376HJVc.1250G>A (p.Gly417Glu)
c.572G>A (p.Gly191Glu)
c.911G>A (p.Gly304Glu)
 gnomAD v4
1g.146018109C>ACA29822789HJVc.1249G>T (p.Gly417Trp)
c.571G>T (p.Gly191Trp)
c.910G>T (p.Gly304Trp)
1g.146018109C=CA1198820845HJVc.1249G= (p.Gly417=)
c.571G= (p.Gly191=)
c.910G= (p.Gly304=)
1g.146018109C>GCA1053991HJVc.1249G>C (p.Gly417Arg)
c.571G>C (p.Gly191Arg)
c.910G>C (p.Gly304Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.146018109C>TCA1053990HJVc.1249G>A (p.Gly417Arg)
c.571G>A (p.Gly191Arg)
c.910G>A (p.Gly304Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.146018110A>CCA420249995HJVc.1248T>G (p.Ser416=)
c.570T>G (p.Ser190=)
c.909T>G (p.Ser303=)
1g.146018110A>GCA420249996HJVc.1248T>C (p.Ser416=)
c.570T>C (p.Ser190=)
c.909T>C (p.Ser303=)
 ClinVar
1g.146018110A>TCA420249998HJVc.1248T>A (p.Ser416=)
c.570T>A (p.Ser190=)
c.909T>A (p.Ser303=)
1g.146018111G>ACA342131384HJVc.1247C>T (p.Ser416Phe)
c.569C>T (p.Ser190Phe)
c.908C>T (p.Ser303Phe)
1g.146018111G>CCA342131386HJVc.1247C>G (p.Ser416Cys)
c.569C>G (p.Ser190Cys)
c.908C>G (p.Ser303Cys)
1g.146018111G>TCA342131388HJVc.1247C>A (p.Ser416Tyr)
c.569C>A (p.Ser190Tyr)
c.908C>A (p.Ser303Tyr)
 COSMIC
1g.146018112A=CA1148129812HJVc.1246T= (p.Ser416=)
c.568T= (p.Ser190=)
c.907T= (p.Ser303=)
1g.146018112A>CCA342131389HJVc.1246T>G (p.Ser416Ala)
c.568T>G (p.Ser190Ala)
c.907T>G (p.Ser303Ala)
1g.146018112A>GCA1053989HJVc.1246T>C (p.Ser416Pro)
c.568T>C (p.Ser190Pro)
c.907T>C (p.Ser303Pro)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.146018112A>TCA342131400HJVc.1246T>A (p.Ser416Thr)
c.568T>A (p.Ser190Thr)
c.907T>A (p.Ser303Thr)
1g.146018113A>CCA420250002HJVc.1245T>G (p.Leu415=)
c.567T>G (p.Leu189=)
c.906T>G (p.Leu302=)
 gnomAD v4
1g.146018113A>GCA420250001HJVc.1245T>C (p.Leu415=)
c.567T>C (p.Leu189=)
c.906T>C (p.Leu302=)
1g.146018113A>TCA420250003HJVc.1245T>A (p.Leu415=)
c.567T>A (p.Leu189=)
c.906T>A (p.Leu302=)
1g.146018114A>CCA342131403HJVc.1244T>G (p.Leu415Arg)
c.566T>G (p.Leu189Arg)
c.905T>G (p.Leu302Arg)
1g.146018114A>GCA342131405HJVc.1244T>C (p.Leu415Pro)
c.566T>C (p.Leu189Pro)
c.905T>C (p.Leu302Pro)
1g.146018114A>TCA342131408HJVc.1244T>A (p.Leu415His)
c.566T>A (p.Leu189His)
c.905T>A (p.Leu302His)
1g.146018115G>ACA342131410HJVc.1243C>T (p.Leu415Phe)
c.565C>T (p.Leu189Phe)
c.904C>T (p.Leu302Phe)
 gnomAD v4 COSMIC
1g.146018115G>CCA342131412HJVc.1243C>G (p.Leu415Val)
c.565C>G (p.Leu189Val)
c.904C>G (p.Leu302Val)
1g.146018115G>TCA342131411HJVc.1243C>A (p.Leu415Ile)
c.565C>A (p.Leu189Ile)
c.904C>A (p.Leu302Ile)
1g.146018116G>ACA420250004HJVc.1242C>T (p.Leu414=)
c.564C>T (p.Leu188=)
c.903C>T (p.Leu301=)
1g.146018116G>CCA420250006HJVc.1242C>G (p.Leu414=)
c.564C>G (p.Leu188=)
c.903C>G (p.Leu301=)
1g.146018116G>TCA420250005HJVc.1242C>A (p.Leu414=)
c.564C>A (p.Leu188=)
c.903C>A (p.Leu301=)
1g.146018117A>CCA342131418HJVc.1241T>G (p.Leu414Arg)
c.563T>G (p.Leu188Arg)
c.902T>G (p.Leu301Arg)
 gnomAD v4
1g.146018117A>GCA342131420HJVc.1241T>C (p.Leu414Pro)
c.563T>C (p.Leu188Pro)
c.902T>C (p.Leu301Pro)
 gnomAD v4
1g.146018117A>TCA342131448HJVc.1241T>A (p.Leu414His)
c.563T>A (p.Leu188His)
c.902T>A (p.Leu301His)
1g.146018118G>ACA342131452HJVc.1240C>T (p.Leu414Phe)
c.562C>T (p.Leu188Phe)
c.901C>T (p.Leu301Phe)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.146018118G>CCA342131454HJVc.1240C>G (p.Leu414Val)
c.562C>G (p.Leu188Val)
c.901C>G (p.Leu301Val)
1g.146018118G=CA1198820846HJVc.1240C= (p.Leu414=)
c.562C= (p.Leu188=)
c.901C= (p.Leu301=)
1g.146018118G>TCA342131457HJVc.1240C>A (p.Leu414Ile)
c.562C>A (p.Leu188Ile)
c.901C>A (p.Leu301Ile)
1g.146018119T>ACA420250012HJVc.1239A>T (p.Pro413=)
c.561A>T (p.Pro187=)
c.900A>T (p.Pro300=)
1g.146018119T>CCA420250015HJVc.1239A>G (p.Pro413=)
c.561A>G (p.Pro187=)
c.900A>G (p.Pro300=)
1g.146018119T>GCA420250014HJVc.1239A>C (p.Pro413=)
c.561A>C (p.Pro187=)
c.900A>C (p.Pro300=)
1g.146018120G>ACA342131461HJVc.1238C>T (p.Pro413Leu)
c.560C>T (p.Pro187Leu)
c.899C>T (p.Pro300Leu)
 ClinVar dbSNP
1g.146018120G>CCA342131462HJVc.1238C>G (p.Pro413Arg)
c.560C>G (p.Pro187Arg)
c.899C>G (p.Pro300Arg)
1g.146018120G>TCA342131465HJVc.1238C>A (p.Pro413Gln)
c.560C>A (p.Pro187Gln)
c.899C>A (p.Pro300Gln)
1g.146018121G>ACA1053988HJVc.1237C>T (p.Pro413Ser)
c.559C>T (p.Pro187Ser)
c.898C>T (p.Pro300Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.146018121G>CCA29822800HJVc.1237C>G (p.Pro413Ala)
c.559C>G (p.Pro187Ala)
c.898C>G (p.Pro300Ala)
1g.146018121G=CA1148212947HJVc.1237C= (p.Pro413=)
c.559C= (p.Pro187=)
c.898C= (p.Pro300=)
1g.146018121G>TCA29822801HJVc.1237C>A (p.Pro413Thr)
c.559C>A (p.Pro187Thr)
c.898C>A (p.Pro300Thr)
1g.146018122A>CCA420250016HJVc.1236T>G (p.Ala412=)
c.558T>G (p.Ala186=)
c.897T>G (p.Ala299=)
1g.146018122A>GCA420250018HJVc.1236T>C (p.Ala412=)
c.558T>C (p.Ala186=)
c.897T>C (p.Ala299=)
1g.146018122A>TCA420250017HJVc.1236T>A (p.Ala412=)
c.558T>A (p.Ala186=)
c.897T>A (p.Ala299=)
1g.146018123G>ACA342131485HJVc.1235C>T (p.Ala412Val)
c.557C>T (p.Ala186Val)
c.896C>T (p.Ala299Val)
 dbSNP gnomAD v2 gnomAD v4
1g.146018123G>CCA342131484HJVc.1235C>G (p.Ala412Gly)
c.557C>G (p.Ala186Gly)
c.896C>G (p.Ala299Gly)
1g.146018123G=CA1198820847HJVc.1235C= (p.Ala412=)
c.557C= (p.Ala186=)
c.896C= (p.Ala299=)
1g.146018123G>TCA342131483HJVc.1235C>A (p.Ala412Asp)
c.557C>A (p.Ala186Asp)
c.896C>A (p.Ala299Asp)
1g.146018124C>ACA29822803HJVc.1234G>T (p.Ala412Ser)
c.556G>T (p.Ala186Ser)
c.895G>T (p.Ala299Ser)
1g.146018124C=CA1198820848HJVc.1234G= (p.Ala412=)
c.556G= (p.Ala186=)
c.895G= (p.Ala299=)
1g.146018124C>GCA1053987HJVc.1234G>C (p.Ala412Pro)
c.556G>C (p.Ala186Pro)
c.895G>C (p.Ala299Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.146018124C>TCA1053986HJVc.1234G>A (p.Ala412Thr)
c.556G>A (p.Ala186Thr)
c.895G>A (p.Ala299Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.146018125T>ACA342131487HJVc.1233A>T (p.Leu411Phe)
c.555A>T (p.Leu185Phe)
c.894A>T (p.Leu298Phe)
1g.146018125T>CCA420250023HJVc.1233A>G (p.Leu411=)
c.555A>G (p.Leu185=)
c.894A>G (p.Leu298=)
1g.146018125T>GCA342131493HJVc.1233A>C (p.Leu411Phe)
c.555A>C (p.Leu185Phe)
c.894A>C (p.Leu298Phe)
1g.146018126A>CCA342131510HJVc.1232T>G (p.Leu411Ter)
c.554T>G (p.Leu185Ter)
c.893T>G (p.Leu298Ter)
1g.146018126A>GCA342131520HJVc.1232T>C (p.Leu411Ser)
c.554T>C (p.Leu185Ser)
c.893T>C (p.Leu298Ser)
1g.146018126A>TCA342131523HJVc.1232T>A (p.Leu411Ter)
c.554T>A (p.Leu185Ter)
c.893T>A (p.Leu298Ter)
1g.146018127A>CCA342131527HJVc.1231T>G (p.Leu411Val)
c.553T>G (p.Leu185Val)
c.892T>G (p.Leu298Val)
1g.146018127A>GCA420250025HJVc.1231T>C (p.Leu411=)
c.553T>C (p.Leu185=)
c.892T>C (p.Leu298=)
1g.146018127A>TCA342131539HJVc.1231T>A (p.Leu411Ile)
c.553T>A (p.Leu185Ile)
c.892T>A (p.Leu298Ile)
1g.146018128G>ACA420250028HJVc.1230C>T (p.Leu410=)
c.552C>T (p.Leu184=)
c.891C>T (p.Leu297=)
1g.146018128G>CCA420250030HJVc.1230C>G (p.Leu410=)
c.552C>G (p.Leu184=)
c.891C>G (p.Leu297=)
1g.146018128G>TCA420250029HJVc.1230C>A (p.Leu410=)
c.552C>A (p.Leu184=)
c.891C>A (p.Leu297=)
1g.146018129A=CA1198820849HJVc.1229T= (p.Leu410=)
c.551T= (p.Leu184=)
c.890T= (p.Leu297=)
1g.146018129A>CCA342131544HJVc.1229T>G (p.Leu410Arg)
c.551T>G (p.Leu184Arg)
c.890T>G (p.Leu297Arg)
1g.146018129A>GCA342131558HJVc.1229T>C (p.Leu410Pro)
c.551T>C (p.Leu184Pro)
c.890T>C (p.Leu297Pro)
 dbSNP gnomAD v2 gnomAD v4
1g.146018129A>TCA342131578HJVc.1229T>A (p.Leu410His)
c.551T>A (p.Leu184His)
c.890T>A (p.Leu297His)
 gnomAD v4
1g.146018130G>ACA342131592HJVc.1228C>T (p.Leu410Phe)
c.550C>T (p.Leu184Phe)
c.889C>T (p.Leu297Phe)
1g.146018130G>CCA342131588HJVc.1228C>G (p.Leu410Val)
c.550C>G (p.Leu184Val)
c.889C>G (p.Leu297Val)
1g.146018130G>TCA342131587HJVc.1228C>A (p.Leu410Ile)
c.550C>A (p.Leu184Ile)
c.889C>A (p.Leu297Ile)
1g.146018131G>ACA1053984HJVc.1227C>T (p.Thr409=)
c.549C>T (p.Thr183=)
c.888C>T (p.Thr296=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.146018131G>CCA29822839HJVc.1227C>G (p.Thr409=)
c.549C>G (p.Thr183=)
c.888C>G (p.Thr296=)
1g.146018131G=CA1198820850HJVc.1227C= (p.Thr409=)
c.549C= (p.Thr183=)
c.888C= (p.Thr296=)
1g.146018131G>TCA1053985HJVc.1227C>A (p.Thr409=)
c.549C>A (p.Thr183=)
c.888C>A (p.Thr296=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.146018132G>ACA29822849HJVc.1226C>T (p.Thr409Ile)
c.548C>T (p.Thr183Ile)
c.887C>T (p.Thr296Ile)
 dbSNP gnomAD v3 gnomAD v4
1g.146018132G>CCA342131610HJVc.1226C>G (p.Thr409Ser)
c.548C>G (p.Thr183Ser)
c.887C>G (p.Thr296Ser)
1g.146018132G=CA1198820851HJVc.1226C= (p.Thr409=)
c.548C= (p.Thr183=)
c.887C= (p.Thr296=)
1g.146018132G>TCA342131606HJVc.1226C>A (p.Thr409Asn)
c.548C>A (p.Thr183Asn)
c.887C>A (p.Thr296Asn)
1g.146018133T>ACA342131613HJVc.1225A>T (p.Thr409Ser)
c.547A>T (p.Thr183Ser)
c.886A>T (p.Thr296Ser)
1g.146018133T>CCA342131634HJVc.1225A>G (p.Thr409Ala)
c.547A>G (p.Thr183Ala)
c.886A>G (p.Thr296Ala)
1g.146018133T>GCA342131616HJVc.1225A>C (p.Thr409Pro)
c.547A>C (p.Thr183Pro)
c.886A>C (p.Thr296Pro)
1g.146018134T>ACA420250040HJVc.1224A>T (p.Ala408=)
c.546A>T (p.Ala182=)
c.885A>T (p.Ala295=)
1g.146018134T>CCA29822855HJVc.1224A>G (p.Ala408=)
c.546A>G (p.Ala182=)
c.885A>G (p.Ala295=)
 dbSNP
1g.146018134T>GCA420250039HJVc.1224A>C (p.Ala408=)
c.546A>C (p.Ala182=)
c.885A>C (p.Ala295=)
1g.146018134T=CA1198820852HJVc.1224A= (p.Ala408=)
c.546A= (p.Ala182=)
c.885A= (p.Ala295=)
1g.146018135G>ACA1053983HJVc.1223C>T (p.Ala408Val)
c.545C>T (p.Ala182Val)
c.884C>T (p.Ala295Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.146018135G>CCA29822862HJVc.1223C>G (p.Ala408Gly)
c.545C>G (p.Ala182Gly)
c.884C>G (p.Ala295Gly)
1g.146018135G=CA1143488885HJVc.1223C= (p.Ala408=)
c.545C= (p.Ala182=)
c.884C= (p.Ala295=)
1g.146018135G>TCA29822867HJVc.1223C>A (p.Ala408Glu)
c.545C>A (p.Ala182Glu)
c.884C>A (p.Ala295Glu)
1g.146018136C>ACA342131666HJVc.1222G>T (p.Ala408Ser)
c.544G>T (p.Ala182Ser)
c.883G>T (p.Ala295Ser)
1g.146018136C=CA1198820853HJVc.1222G= (p.Ala408=)
c.544G= (p.Ala182=)
c.883G= (p.Ala295=)
1g.146018136C>GCA342131674HJVc.1222G>C (p.Ala408Pro)
c.544G>C (p.Ala182Pro)
c.883G>C (p.Ala295Pro)
1g.146018136C>TCA342131700HJVc.1222G>A (p.Ala408Thr)
c.544G>A (p.Ala182Thr)
c.883G>A (p.Ala295Thr)
 dbSNP gnomAD v2 gnomAD v4
1g.146018137T>ACA420250048HJVc.1221A>T (p.Ser407=)
c.543A>T (p.Ser181=)
c.882A>T (p.Ser294=)
1g.146018137T>CCA420250043HJVc.1221A>G (p.Ser407=)
c.543A>G (p.Ser181=)
c.882A>G (p.Ser294=)
 gnomAD v4
1g.146018137T>GCA420250049HJVc.1221A>C (p.Ser407=)
c.543A>C (p.Ser181=)
c.882A>C (p.Ser294=)
1g.146018138G>ACA342131709HJVc.1220C>T (p.Ser407Leu)
c.542C>T (p.Ser181Leu)
c.881C>T (p.Ser294Leu)
 gnomAD v4
1g.146018138G>CCA342131722HJVc.1220C>G (p.Ser407Ter)
c.542C>G (p.Ser181Ter)
c.881C>G (p.Ser294Ter)
1g.146018138G>TCA342131727HJVc.1220C>A (p.Ser407Ter)
c.542C>A (p.Ser181Ter)
c.881C>A (p.Ser294Ter)
1g.146018139A>CCA342131739HJVc.1219T>G (p.Ser407Ala)
c.541T>G (p.Ser181Ala)
c.880T>G (p.Ser294Ala)
 gnomAD v4
1g.146018139A>GCA342131751HJVc.1219T>C (p.Ser407Pro)
c.541T>C (p.Ser181Pro)
c.880T>C (p.Ser294Pro)
1g.146018139A>TCA342131763HJVc.1219T>A (p.Ser407Thr)
c.541T>A (p.Ser181Thr)
c.880T>A (p.Ser294Thr)
1g.146018140_146018143delCA915940565HJVc.1216_1219del (p.Ser406GlnfsTer5)
c.538_541del (p.Ser180GlnfsTer5)
c.877_880del (p.Ser293GlnfsTer5)
1g.146018140G>ACA420250054HJVc.1218C>T (p.Ser406=)
c.540C>T (p.Ser180=)
c.879C>T (p.Ser293=)
1g.146018140G>CCA420250056HJVc.1218C>G (p.Ser406=)
c.540C>G (p.Ser180=)
c.879C>G (p.Ser293=)
1g.146018140G>TCA420250055HJVc.1218C>A (p.Ser406=)
c.540C>A (p.Ser180=)
c.879C>A (p.Ser293=)
1g.146018141G>ACA342131776HJVc.1217C>T (p.Ser406Phe)
c.539C>T (p.Ser180Phe)
c.878C>T (p.Ser293Phe)
 COSMIC
1g.146018141G>CCA342131794HJVc.1217C>G (p.Ser406Cys)
c.539C>G (p.Ser180Cys)
c.878C>G (p.Ser293Cys)
1g.146018141G>TCA342131784HJVc.1217C>A (p.Ser406Tyr)
c.539C>A (p.Ser180Tyr)
c.878C>A (p.Ser293Tyr)
1g.146018142A>CCA342131800HJVc.1216T>G (p.Ser406Ala)
c.538T>G (p.Ser180Ala)
c.877T>G (p.Ser293Ala)
1g.146018142A>GCA342131801HJVc.1216T>C (p.Ser406Pro)
c.538T>C (p.Ser180Pro)
c.877T>C (p.Ser293Pro)
1g.146018142A>TCA342131802HJVc.1216T>A (p.Ser406Thr)
c.538T>A (p.Ser180Thr)
c.877T>A (p.Ser293Thr)
1g.146018143A>CCA420250061HJVc.1215T>G (p.Leu405=)
c.537T>G (p.Leu179=)
c.876T>G (p.Leu292=)
1g.146018143A>GCA420250063HJVc.1215T>C (p.Leu405=)
c.537T>C (p.Leu179=)
c.876T>C (p.Leu292=)
1g.146018143A>TCA420250062HJVc.1215T>A (p.Leu405=)
c.537T>A (p.Leu179=)
c.876T>A (p.Leu292=)
1g.146018144A=CA1198820854HJVc.1214T= (p.Leu405=)
c.536T= (p.Leu179=)
c.875T= (p.Leu292=)
1g.146018144A>CCA29822871HJVc.1214T>G (p.Leu405Arg)
c.536T>G (p.Leu179Arg)
c.875T>G (p.Leu292Arg)
1g.146018144A>GCA1053982HJVc.1214T>C (p.Leu405Pro)
c.536T>C (p.Leu179Pro)
c.875T>C (p.Leu292Pro)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.146018144A>TCA29822876HJVc.1214T>A (p.Leu405His)
c.536T>A (p.Leu179His)
c.875T>A (p.Leu292His)
 gnomAD v4
1g.146018145G>ACA342131806HJVc.1213C>T (p.Leu405Phe)
c.535C>T (p.Leu179Phe)
c.874C>T (p.Leu292Phe)
1g.146018145G>CCA342131807HJVc.1213C>G (p.Leu405Val)
c.535C>G (p.Leu179Val)
c.874C>G (p.Leu292Val)
1g.146018145G>TCA342131813HJVc.1213C>A (p.Leu405Ile)
c.535C>A (p.Leu179Ile)
c.874C>A (p.Leu292Ile)
1g.146018146A>CCA420250068HJVc.1212T>G (p.Pro404=)
c.534T>G (p.Pro178=)
c.873T>G (p.Pro291=)
 gnomAD v4
1g.146018146A>GCA420250069HJVc.1212T>C (p.Pro404=)
c.534T>C (p.Pro178=)
c.873T>C (p.Pro291=)
1g.146018146A>TCA420250067HJVc.1212T>A (p.Pro404=)
c.534T>A (p.Pro178=)
c.873T>A (p.Pro291=)
1g.146018147G>ACA342131821HJVc.1211C>T (p.Pro404Leu)
c.533C>T (p.Pro178Leu)
c.872C>T (p.Pro291Leu)
1g.146018147G>CCA342131817HJVc.1211C>G (p.Pro404Arg)
c.533C>G (p.Pro178Arg)
c.872C>G (p.Pro291Arg)
1g.146018147G>TCA342131814HJVc.1211C>A (p.Pro404His)
c.533C>A (p.Pro178His)
c.872C>A (p.Pro291His)
1g.146018148G>ACA342131828HJVc.1210C>T (p.Pro404Ser)
c.532C>T (p.Pro178Ser)
c.871C>T (p.Pro291Ser)
 gnomAD v4
1g.146018148G>CCA342131832HJVc.1210C>G (p.Pro404Ala)
c.532C>G (p.Pro178Ala)
c.871C>G (p.Pro291Ala)
1g.146018148G>TCA342131834HJVc.1210C>A (p.Pro404Thr)
c.532C>A (p.Pro178Thr)
c.871C>A (p.Pro291Thr)
1g.146018149A>CCA420250074HJVc.1209T>G (p.Val403=)
c.531T>G (p.Val177=)
c.870T>G (p.Val290=)
1g.146018149A>GCA420250072HJVc.1209T>C (p.Val403=)
c.531T>C (p.Val177=)
c.870T>C (p.Val290=)
 gnomAD v4
1g.146018149A>TCA420250073HJVc.1209T>A (p.Val403=)
c.531T>A (p.Val177=)
c.870T>A (p.Val290=)
1g.146018150A>CCA342131850HJVc.1208T>G (p.Val403Gly)
c.530T>G (p.Val177Gly)
c.869T>G (p.Val290Gly)
1g.146018150A>GCA342131855HJVc.1208T>C (p.Val403Ala)
c.530T>C (p.Val177Ala)
c.869T>C (p.Val290Ala)
 gnomAD v4 COSMIC
1g.146018150A>TCA342131859HJVc.1208T>A (p.Val403Asp)
c.530T>A (p.Val177Asp)
c.869T>A (p.Val290Asp)
1g.146018151C>ACA29822887HJVc.1207G>T (p.Val403Phe)
c.529G>T (p.Val177Phe)
c.868G>T (p.Val290Phe)
1g.146018151C=CA1143423674HJVc.1207G= (p.Val403=)
c.529G= (p.Val177=)
c.868G= (p.Val290=)
1g.146018151C>GCA29822892HJVc.1207G>C (p.Val403Leu)
c.529G>C (p.Val177Leu)
c.868G>C (p.Val290Leu)
 dbSNP
1g.146018151C>TCA1053981HJVc.1207G>A (p.Val403Ile)
c.529G>A (p.Val177Ile)
c.868G>A (p.Val290Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.146018152C>ACA420250077HJVc.1206G>T (p.Gly402=)
c.528G>T (p.Gly176=)
c.867G>T (p.Gly289=)
 ClinVar dbSNP gnomAD v4
1g.146018152C=CA1198820855HJVc.1206G= (p.Gly402=)
c.528G= (p.Gly176=)
c.867G= (p.Gly289=)
1g.146018152C>GCA420250078HJVc.1206G>C (p.Gly402=)
c.528G>C (p.Gly176=)
c.867G>C (p.Gly289=)
1g.146018152C>TCA420250076HJVc.1206G>A (p.Gly402=)
c.528G>A (p.Gly176=)
c.867G>A (p.Gly289=)
 ClinVar dbSNP
1g.146018153C>ACA342131882HJVc.1205G>T (p.Gly402Val)
c.527G>T (p.Gly176Val)
c.866G>T (p.Gly289Val)
1g.146018153C>GCA342131887HJVc.1205G>C (p.Gly402Ala)
c.527G>C (p.Gly176Ala)
c.866G>C (p.Gly289Ala)
1g.146018153C>TCA342131889HJVc.1205G>A (p.Gly402Glu)
c.527G>A (p.Gly176Glu)
c.866G>A (p.Gly289Glu)
1g.146018154C>ACA342131903HJVc.1204G>T (p.Gly402Trp)
c.526G>T (p.Gly176Trp)
c.865G>T (p.Gly289Trp)
1g.146018154C=CA1198820856HJVc.1204G= (p.Gly402=)
c.526G= (p.Gly176=)
c.865G= (p.Gly289=)
1g.146018154C>GCA342131896HJVc.1204G>C (p.Gly402Arg)
c.526G>C (p.Gly176Arg)
c.865G>C (p.Gly289Arg)
1g.146018154C>TCA342131900HJVc.1204G>A (p.Gly402Arg)
c.526G>A (p.Gly176Arg)
c.865G>A (p.Gly289Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.146018155A>CCA420250084HJVc.1203T>G (p.Ala401=)
c.525T>G (p.Ala175=)
c.864T>G (p.Ala288=)
1g.146018155A>GCA420250083HJVc.1203T>C (p.Ala401=)
c.525T>C (p.Ala175=)
c.864T>C (p.Ala288=)
1g.146018155A>TCA420250085HJVc.1203T>A (p.Ala401=)
c.525T>A (p.Ala175=)
c.864T>A (p.Ala288=)
1g.146018156G>ACA342131908HJVc.1202C>T (p.Ala401Val)
c.524C>T (p.Ala175Val)
c.863C>T (p.Ala288Val)
1g.146018156G>CCA342131910HJVc.1202C>G (p.Ala401Gly)
c.524C>G (p.Ala175Gly)
c.863C>G (p.Ala288Gly)
1g.146018156G>TCA342131912HJVc.1202C>A (p.Ala401Asp)
c.524C>A (p.Ala175Asp)
c.863C>A (p.Ala288Asp)
1g.146018157C>ACA342131928HJVc.1201G>T (p.Ala401Ser)
c.523G>T (p.Ala175Ser)
c.862G>T (p.Ala288Ser)
1g.146018157C>GCA342131930HJVc.1201G>C (p.Ala401Pro)
c.523G>C (p.Ala175Pro)
c.862G>C (p.Ala288Pro)
1g.146018157C>TCA342131936HJVc.1201G>A (p.Ala401Thr)
c.523G>A (p.Ala175Thr)
c.862G>A (p.Ala288Thr)
 gnomAD v4
1g.146018158A>CCA342131943HJVc.1200T>G (p.Asp400Glu)
c.522T>G (p.Asp174Glu)
c.861T>G (p.Asp287Glu)
1g.146018158A>GCA420250091HJVc.1200T>C (p.Asp400=)
c.522T>C (p.Asp174=)
c.861T>C (p.Asp287=)
1g.146018158A>TCA342131944HJVc.1200T>A (p.Asp400Glu)
c.522T>A (p.Asp174Glu)
c.861T>A (p.Asp287Glu)
1g.146018159T>ACA342131947HJVc.1199A>T (p.Asp400Val)
c.521A>T (p.Asp174Val)
c.860A>T (p.Asp287Val)
1g.146018159T>CCA342131957HJVc.1199A>G (p.Asp400Gly)
c.521A>G (p.Asp174Gly)
c.860A>G (p.Asp287Gly)
 gnomAD v4
1g.146018159T>GCA342131963HJVc.1199A>C (p.Asp400Ala)
c.521A>C (p.Asp174Ala)
c.860A>C (p.Asp287Ala)
 dbSNP gnomAD v2 gnomAD v4
1g.146018159T=CA1198820857HJVc.1199A= (p.Asp400=)
c.521A= (p.Asp174=)
c.860A= (p.Asp287=)
1g.146018160C>ACA342131972HJVc.1198G>T (p.Asp400Tyr)
c.520G>T (p.Asp174Tyr)
c.859G>T (p.Asp287Tyr)
 dbSNP gnomAD v2 gnomAD v4
1g.146018160C=CA1198820858HJVc.1198G= (p.Asp400=)
c.520G= (p.Asp174=)
c.859G= (p.Asp287=)
1g.146018160C>GCA342131975HJVc.1198G>C (p.Asp400His)
c.520G>C (p.Asp174His)
c.859G>C (p.Asp287His)
1g.146018160C>TCA342131969HJVc.1198G>A (p.Asp400Asn)
c.520G>A (p.Asp174Asn)
c.859G>A (p.Asp287Asn)
1g.146018161T>ACA420250095HJVc.1197A>T (p.Ser399=)
c.519A>T (p.Ser173=)
c.858A>T (p.Ser286=)
1g.146018161T>CCA420250093HJVc.1197A>G (p.Ser399=)
c.519A>G (p.Ser173=)
c.858A>G (p.Ser286=)
 ClinVar dbSNP gnomAD v4
1g.146018161T>GCA420250096HJVc.1197A>C (p.Ser399=)
c.519A>C (p.Ser173=)
c.858A>C (p.Ser286=)
 gnomAD v4
1g.146018161T=CA1198820859HJVc.1197A= (p.Ser399=)
c.519A= (p.Ser173=)
c.858A= (p.Ser286=)
1g.146018162G>ACA342131979HJVc.1196C>T (p.Ser399Leu)
c.518C>T (p.Ser173Leu)
c.857C>T (p.Ser286Leu)
 dbSNP
1g.146018162G>CCA342131981HJVc.1196C>G (p.Ser399Ter)
c.518C>G (p.Ser173Ter)
c.857C>G (p.Ser286Ter)
 dbSNP
1g.146018162G>TCA342131983HJVc.1196C>A (p.Ser399Ter)
c.518C>A (p.Ser173Ter)
c.857C>A (p.Ser286Ter)
1g.146018163A>CCA342131986HJVc.1195T>G (p.Ser399Ala)
c.517T>G (p.Ser173Ala)
c.856T>G (p.Ser286Ala)
1g.146018163A>GCA342131988HJVc.1195T>C (p.Ser399Pro)
c.517T>C (p.Ser173Pro)
c.856T>C (p.Ser286Pro)
1g.146018163A>TCA342131992HJVc.1195T>A (p.Ser399Thr)
c.517T>A (p.Ser173Thr)
c.856T>A (p.Ser286Thr)
1g.146018164G>ACA420250099HJVc.1194C>T (p.Pro398=)
c.516C>T (p.Pro172=)
c.855C>T (p.Pro285=)
 dbSNP gnomAD v3 gnomAD v4
1g.146018164G>CCA29822901HJVc.1194C>G (p.Pro398=)
c.516C>G (p.Pro172=)
c.855C>G (p.Pro285=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.146018164G=CA1198820860HJVc.1194C= (p.Pro398=)
c.516C= (p.Pro172=)
c.855C= (p.Pro285=)
1g.146018164G>TCA420250100HJVc.1194C>A (p.Pro398=)
c.516C>A (p.Pro172=)
c.855C>A (p.Pro285=)
1g.146018165G>ACA342132001HJVc.1193C>T (p.Pro398Leu)
c.515C>T (p.Pro172Leu)
c.854C>T (p.Pro285Leu)
1g.146018165G>CCA342132007HJVc.1193C>G (p.Pro398Arg)
c.515C>G (p.Pro172Arg)
c.854C>G (p.Pro285Arg)
1g.146018165G>TCA342132008HJVc.1193C>A (p.Pro398His)
c.515C>A (p.Pro172His)
c.854C>A (p.Pro285His)
1g.146018166G>ACA342132020HJVc.1192C>T (p.Pro398Ser)
c.514C>T (p.Pro172Ser)
c.853C>T (p.Pro285Ser)
 COSMIC
1g.146018166G>CCA342132023HJVc.1192C>G (p.Pro398Ala)
c.514C>G (p.Pro172Ala)
c.853C>G (p.Pro285Ala)
1g.146018166G>TCA342132035HJVc.1192C>A (p.Pro398Thr)
c.514C>A (p.Pro172Thr)
c.853C>A (p.Pro285Thr)
1g.146018167G>ACA1053980HJVc.1191C>T (p.Phe397=)
c.513C>T (p.Phe171=)
c.852C>T (p.Phe284=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.146018167G>CCA29822906HJVc.1191C>G (p.Phe397Leu)
c.513C>G (p.Phe171Leu)
c.852C>G (p.Phe284Leu)
1g.146018167G=CA1198820861HJVc.1191C= (p.Phe397=)
c.513C= (p.Phe171=)
c.852C= (p.Phe284=)
1g.146018167G>TCA29822912HJVc.1191C>A (p.Phe397Leu)
c.513C>A (p.Phe171Leu)
c.852C>A (p.Phe284Leu)
1g.146018168A>CCA342132042HJVc.1190T>G (p.Phe397Cys)
c.512T>G (p.Phe171Cys)
c.851T>G (p.Phe284Cys)
1g.146018168A>GCA342132047HJVc.1190T>C (p.Phe397Ser)
c.512T>C (p.Phe171Ser)
c.851T>C (p.Phe284Ser)
1g.146018168A>TCA342132051HJVc.1190T>A (p.Phe397Tyr)
c.512T>A (p.Phe171Tyr)
c.851T>A (p.Phe284Tyr)
1g.146018169A>CCA342132053HJVc.1189T>G (p.Phe397Val)
c.511T>G (p.Phe171Val)
c.850T>G (p.Phe284Val)
1g.146018169A>GCA342132056HJVc.1189T>C (p.Phe397Leu)
c.511T>C (p.Phe171Leu)
c.850T>C (p.Phe284Leu)
1g.146018169A>TCA342132058HJVc.1189T>A (p.Phe397Ile)
c.511T>A (p.Phe171Ile)
c.850T>A (p.Phe284Ile)
1g.146018170G>ACA420250106HJVc.1188C>T (p.Leu396=)
c.510C>T (p.Leu170=)
c.849C>T (p.Leu283=)
1g.146018170G>CCA420250105HJVc.1188C>G (p.Leu396=)
c.510C>G (p.Leu170=)
c.849C>G (p.Leu283=)
 ClinVar dbSNP gnomAD v2
1g.146018170G=CA1198820862HJVc.1188C= (p.Leu396=)
c.510C= (p.Leu170=)
c.849C= (p.Leu283=)
1g.146018170G>TCA420250104HJVc.1188C>A (p.Leu396=)
c.510C>A (p.Leu170=)
c.849C>A (p.Leu283=)
1g.146018171A>CCA342132068HJVc.1187T>G (p.Leu396Arg)
c.509T>G (p.Leu170Arg)
c.848T>G (p.Leu283Arg)
1g.146018171A>GCA342132063HJVc.1187T>C (p.Leu396Pro)
c.509T>C (p.Leu170Pro)
c.848T>C (p.Leu283Pro)
1g.146018171A>TCA342132067HJVc.1187T>A (p.Leu396His)
c.509T>A (p.Leu170His)
c.848T>A (p.Leu283His)
1g.146018172G>ACA342132069HJVc.1186C>T (p.Leu396Phe)
c.508C>T (p.Leu170Phe)
c.847C>T (p.Leu283Phe)
 COSMIC
1g.146018172G>CCA342132071HJVc.1186C>G (p.Leu396Val)
c.508C>G (p.Leu170Val)
c.847C>G (p.Leu283Val)
1g.146018172G=CA1198820863HJVc.1186C= (p.Leu396=)
c.508C= (p.Leu170=)
c.847C= (p.Leu283=)
1g.146018172G>TCA342132074HJVc.1186C>A (p.Leu396Ile)
c.508C>A (p.Leu170Ile)
c.847C>A (p.Leu283Ile)
1g.146018172_146018173insTTCA888578428HJVc.1185_1186insAA (p.Leu396AsnfsTer17)
c.507_508insAA (p.Leu170AsnfsTer17)
c.846_847insAA (p.Leu283AsnfsTer17)
 dbSNP gnomAD v3 gnomAD v4
1g.146018173A>CCA342132079HJVc.1185T>G (p.His395Gln)
c.507T>G (p.His169Gln)
c.846T>G (p.His282Gln)
1g.146018173A>GCA420250110HJVc.1185T>C (p.His395=)
c.507T>C (p.His169=)
c.846T>C (p.His282=)
1g.146018173A>TCA342132081HJVc.1185T>A (p.His395Gln)
c.507T>A (p.His169Gln)
c.846T>A (p.His282Gln)
1g.146018174T>ACA29822913HJVc.1184A>T (p.His395Leu)
c.506A>T (p.His169Leu)
c.845A>T (p.His282Leu)
 dbSNP gnomAD v2 gnomAD v4
1g.146018174T>CCA1053979HJVc.1184A>G (p.His395Arg)
c.506A>G (p.His169Arg)
c.845A>G (p.His282Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.146018174T>GCA29822914HJVc.1184A>C (p.His395Pro)
c.506A>C (p.His169Pro)
c.845A>C (p.His282Pro)
1g.146018174T=CA1198820864HJVc.1184A= (p.His395=)
c.506A= (p.His169=)
c.845A= (p.His282=)
1g.146018174_146018175delinsTGCA1198820865HJVc.1183_1184delinsCA (p.His395=)
c.505_506delinsCA (p.His169=)
c.844_845delinsCA (p.His282=)
1g.146018175delCA1053977HJVc.1183del (p.His395IlefsTer17)
c.505del (p.His169IlefsTer17)
c.844del (p.His282IlefsTer17)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.146018175G>ACA342132097HJVc.1183C>T (p.His395Tyr)
c.505C>T (p.His169Tyr)
c.844C>T (p.His282Tyr)
 gnomAD v4
1g.146018175G>CCA342132103HJVc.1183C>G (p.His395Asp)
c.505C>G (p.His169Asp)
c.844C>G (p.His282Asp)
1g.146018175G=CA1198820866HJVc.1183C= (p.His395=)
c.505C= (p.His169=)
c.844C= (p.His282=)
1g.146018175G>TCA342132109HJVc.1183C>A (p.His395Asn)
c.505C>A (p.His169Asn)
c.844C>A (p.His282Asn)
 dbSNP
1g.146018176C>ACA29822915HJVc.1182G>T (p.Leu394=)
c.504G>T (p.Leu168=)
c.843G>T (p.Leu281=)
1g.146018176C=CA1198820867HJVc.1182G= (p.Leu394=)
c.504G= (p.Leu168=)
c.843G= (p.Leu281=)
1g.146018176C>GCA29822936HJVc.1182G>C (p.Leu394=)
c.504G>C (p.Leu168=)
c.843G>C (p.Leu281=)
1g.146018176C>TCA1053978HJVc.1182G>A (p.Leu394=)
c.504G>A (p.Leu168=)
c.843G>A (p.Leu281=)
 ClinVar dbSNP ExAC gnomAD v4
1g.146018177A=CA1198820868HJVc.1181T= (p.Leu394=)
c.503T= (p.Leu168=)
c.842T= (p.Leu281=)
1g.146018177A>CCA29822942HJVc.1181T>G (p.Leu394Arg)
c.503T>G (p.Leu168Arg)
c.842T>G (p.Leu281Arg)
1g.146018177A>GCA1053976HJVc.1181T>C (p.Leu394Pro)
c.503T>C (p.Leu168Pro)
c.842T>C (p.Leu281Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.146018177A>TCA29822949HJVc.1181T>A (p.Leu394Gln)
c.503T>A (p.Leu168Gln)
c.842T>A (p.Leu281Gln)
 dbSNP gnomAD v4
1g.146018178G>ACA420250115HJVc.1180C>T (p.Leu394=)
c.502C>T (p.Leu168=)
c.841C>T (p.Leu281=)
1g.146018178G>CCA1053975HJVc.1180C>G (p.Leu394Val)
c.502C>G (p.Leu168Val)
c.841C>G (p.Leu281Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.146018178G=CA1198820869HJVc.1180C= (p.Leu394=)
c.502C= (p.Leu168=)
c.841C= (p.Leu281=)
1g.146018178G>TCA342132121HJVc.1180C>A (p.Leu394Met)
c.502C>A (p.Leu168Met)
c.841C>A (p.Leu281Met)
1g.146018179C>ACA342132125HJVc.1179G>T (p.Lys393Asn)
c.501G>T (p.Lys167Asn)
c.840G>T (p.Lys280Asn)
1g.146018179C>GCA342132128HJVc.1179G>C (p.Lys393Asn)
c.501G>C (p.Lys167Asn)
c.840G>C (p.Lys280Asn)
1g.146018179C>TCA420250116HJVc.1179G>A (p.Lys393=)
c.501G>A (p.Lys167=)
c.840G>A (p.Lys280=)
1g.146018180T>ACA29822974HJVc.1178A>T (p.Lys393Met)
c.500A>T (p.Lys167Met)
c.839A>T (p.Lys280Met)
1g.146018180T>CCA1053974HJVc.1178A>G (p.Lys393Arg)
c.500A>G (p.Lys167Arg)
c.839A>G (p.Lys280Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.146018180T>GCA29822994HJVc.1178A>C (p.Lys393Thr)
c.500A>C (p.Lys167Thr)
c.839A>C (p.Lys280Thr)
1g.146018180T=CA1198820870HJVc.1178A= (p.Lys393=)
c.500A= (p.Lys167=)
c.839A= (p.Lys280=)
1g.146018180_146018181delCA2647575222HJVc.1177_1178del (p.Lys393AlafsTer?)
c.499_500del (p.Lys167AlafsTer?)
c.838_839del (p.Lys280AlafsTer?)
 gnomAD v4
1g.146018181T>ACA342132144HJVc.1177A>T (p.Lys393Ter)
c.499A>T (p.Lys167Ter)
c.838A>T (p.Lys280Ter)
1g.146018181T>CCA342132145HJVc.1177A>G (p.Lys393Glu)
c.499A>G (p.Lys167Glu)
c.838A>G (p.Lys280Glu)
1g.146018181T>GCA342132146HJVc.1177A>C (p.Lys393Gln)
c.499A>C (p.Lys167Gln)
c.838A>C (p.Lys280Gln)
1g.146018182C>ACA342132147HJVc.1176G>T (p.Glu392Asp)
c.498G>T (p.Glu166Asp)
c.837G>T (p.Glu279Asp)
1g.146018182C>GCA342132149HJVc.1176G>C (p.Glu392Asp)
c.498G>C (p.Glu166Asp)
c.837G>C (p.Glu279Asp)
1g.146018182C>TCA420250120HJVc.1176G>A (p.Glu392=)
c.498G>A (p.Glu166=)
c.837G>A (p.Glu279=)
 ClinVar dbSNP
1g.146018183T>ACA342132155HJVc.1175A>T (p.Glu392Val)
c.497A>T (p.Glu166Val)
c.836A>T (p.Glu279Val)
1g.146018183T>CCA342132161HJVc.1175A>G (p.Glu392Gly)
c.497A>G (p.Glu166Gly)
c.836A>G (p.Glu279Gly)
 gnomAD v4
1g.146018183T>GCA342132163HJVc.1175A>C (p.Glu392Ala)
c.497A>C (p.Glu166Ala)
c.836A>C (p.Glu279Ala)
1g.146018183_146018185delCA2647575225HJVc.1173_1175del (p.Glu392del)
c.495_497del (p.Glu166del)
c.834_836del (p.Glu279del)
 gnomAD v4
1g.146018184C>ACA342132168HJVc.1174G>T (p.Glu392Ter)
c.496G>T (p.Glu166Ter)
c.835G>T (p.Glu279Ter)
1g.146018184C=CA1198820871HJVc.1174G= (p.Glu392=)
c.496G= (p.Glu166=)
c.835G= (p.Glu279=)
1g.146018184C>GCA342132177HJVc.1174G>C (p.Glu392Gln)
c.496G>C (p.Glu166Gln)
c.835G>C (p.Glu279Gln)
1g.146018184C>TCA342132178HJVc.1174G>A (p.Glu392Lys)
c.496G>A (p.Glu166Lys)
c.835G>A (p.Glu279Lys)
 dbSNP
1g.146018185T>ACA342132180HJVc.1173A>T (p.Leu391Phe)
c.495A>T (p.Leu165Phe)
c.834A>T (p.Leu278Phe)
1g.146018185T>CCA420250123HJVc.1173A>G (p.Leu391=)
c.495A>G (p.Leu165=)
c.834A>G (p.Leu278=)
 gnomAD v4
1g.146018185T>GCA342132182HJVc.1173A>C (p.Leu391Phe)
c.495A>C (p.Leu165Phe)
c.834A>C (p.Leu278Phe)

Number of alleles fetched